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CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.
Proc Natl Acad Sci U S A. 2018 06 12; 115(24):6261-6266.PN

Abstract

Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10-10 and 6.75 × 10-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10-5 and 5.14 × 10-5, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.

Authors+Show Affiliations

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan. Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 6068503 Kyoto, Japan.Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan. Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 6068503 Kyoto, Japan.Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan. Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 6068503 Kyoto, Japan.Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 6068503 Kyoto, Japan.Department of Ophthalmology, SMG-SNU Boramae Medical Center, Seoul National University College of Medicine, 07061 Seoul, Korea.Department of Ophthalmology, Seoul National University Bundang Hospital, College of Medicine Kyeonggi, Seoul National University, 13620 Seoul, Korea.Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 6500017 Kobe, Japan.Department of Ophthalmology, University of Yamanashi, 4008510 Yamanashi, Japan.Department of Ophthalmology, Kagawa University, 7610793 Kagawa, Japan.Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan.Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan.Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan.Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 6500017 Kobe, Japan.No affiliation info availableDepartment of Ophthalmology, Tokyo Womens' Medical University, 1628666 Tokyo, Japan.Department of Ophthalmology, University of Yamanashi, 4008510 Yamanashi, Japan.Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, 6500017 Kobe, Japan.Singapore National Eye Centre, Singapore Eye Research Institute, 168751 Singapore. Division of Human Genetics, Genome Institute of Singapore, 138672 Singapore.Singapore National Eye Centre, Singapore Eye Research Institute, 168751 Singapore. Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, 117549 Singapore. Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Medical School, National University of Singapore, 169857 Singapore.Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, 138736 Seoul, Korea.Department of Ophthalmology, Seoul National University Bundang Hospital, College of Medicine Kyeonggi, Seoul National University, 13620 Seoul, Korea.Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 6068503 Kyoto, Japan.Center for Genomic Medicine, Kyoto University Graduate School of Medicine, 6068503 Kyoto, Japan.Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan.Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, 6068507 Kyoto, Japan; yamashro@kuhp.kyoto-u.ac.jp. Department of Ophthalmology, Otsu Red-Cross Hospital, 5208511 Otsu, Japan.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29844195

Citation

Hosoda, Yoshikatsu, et al. "CFH and VIPR2 as Susceptibility Loci in Choroidal Thickness and Pachychoroid Disease Central Serous Chorioretinopathy." Proceedings of the National Academy of Sciences of the United States of America, vol. 115, no. 24, 2018, pp. 6261-6266.
Hosoda Y, Yoshikawa M, Miyake M, et al. CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. Proc Natl Acad Sci USA. 2018;115(24):6261-6266.
Hosoda, Y., Yoshikawa, M., Miyake, M., Tabara, Y., Ahn, J., Woo, S. J., Honda, S., Sakurada, Y., Shiragami, C., Nakanishi, H., Oishi, A., Ooto, S., Miki, A., Iida, T., Iijima, H., Nakamura, M., Khor, C. C., Wong, T. Y., Song, K., ... Yamashiro, K. (2018). CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. Proceedings of the National Academy of Sciences of the United States of America, 115(24), 6261-6266. https://doi.org/10.1073/pnas.1802212115
Hosoda Y, et al. CFH and VIPR2 as Susceptibility Loci in Choroidal Thickness and Pachychoroid Disease Central Serous Chorioretinopathy. Proc Natl Acad Sci USA. 2018 06 12;115(24):6261-6266. PubMed PMID: 29844195.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. AU - Hosoda,Yoshikatsu, AU - Yoshikawa,Munemitsu, AU - Miyake,Masahiro, AU - Tabara,Yasuharu, AU - Ahn,Jeeyun, AU - Woo,Se Joon, AU - Honda,Shigeru, AU - Sakurada,Yoichi, AU - Shiragami,Chieko, AU - Nakanishi,Hideo, AU - Oishi,Akio, AU - Ooto,Sotaro, AU - Miki,Akiko, AU - ,, AU - Iida,Tomohiro, AU - Iijima,Hiroyuki, AU - Nakamura,Makoto, AU - Khor,Chiea Chuen, AU - Wong,Tien Yin, AU - Song,Kyuyoung, AU - Park,Kyu Hyung, AU - Yamada,Ryo, AU - Matsuda,Fumihiko, AU - Tsujikawa,Akitaka, AU - Yamashiro,Kenji, Y1 - 2018/05/29/ PY - 2018/5/31/pubmed PY - 2018/8/29/medline PY - 2018/5/31/entrez KW - CFH KW - GWAS KW - VIPR2 KW - central serous chorioretinopathy KW - choroidal thickness SP - 6261 EP - 6266 JF - Proceedings of the National Academy of Sciences of the United States of America JO - Proc. Natl. Acad. Sci. U.S.A. VL - 115 IS - 24 N2 - Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10-10 and 6.75 × 10-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10-5 and 5.14 × 10-5, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology. SN - 1091-6490 UR - https://www.unboundmedicine.com/medline/citation/29844195/CFH_and_VIPR2_as_susceptibility_loci_in_choroidal_thickness_and_pachychoroid_disease_central_serous_chorioretinopathy_ L2 - http://www.pnas.org/cgi/pmidlookup?view=long&pmid=29844195 DB - PRIME DP - Unbound Medicine ER -